Active clinical trials for "Chromosome Aberrations"

The study will determine the performance of the Infinium HD Test. The primary objective of the study is to assess the performance of the Infinium HD Test using banked DNA samples extracted from whole blood patient samples derived from the intended use population. The secondary objective of the study is to determine the background number of chromosomal abnormalities per person in the general population based on the resolution of the Infinium HD Test.

Mosaicism within an embryo is defined as the presence of two or more cell populations with different genotypes. Blastocysts classified as mosaic by Preimplamtation Genetic Testing for Aneuploidy (PGT-A) have been reported to implant less and miscarry more frequently than embryos classified as euploid. Because of the unknown impact of mosaicism on embryo development, these embryos are given low priority and are discarded for transfer. However, recent papers on the transfer of human embryos classified by PGT-A as mosaic suggest that embryos with a low fraction of abnormal cells resulting in viable, chromosomally normal ongoing pregnancies, and high-level mosaics resulting in fewer viable pregnancies, but so far none producing mosaic babies. The apparent presence of mosaicism in an embryo is used as a selection criteria for embryo transfer (ET), introducing a strong bias in terms of patient prognosis and embryo quality. Additionally, it is also possible that some embryos are incorrectly classified as "mosaic" due to technical variability derived from the processing of a uniform aneuploid embryo. The aims of this study is to provide evidences about the clinical significance of chromosomal mosaicism in PGT-A cycles by a prospective non-selection based methodology.

The aim of this study is to reveal the influence of gene mutations on the treatment response of the regimen of HHT combined with Venetoclax plus AZA versus venetoclax plus HMA in the salvage therapy of RR-AML.

Risk-stratified therapy based on molecular and cytogenetic for acute myeloid leukemia (AML) is well accepted and benefits patients' survival. However, neither every patient with low risk factors obtains better survival, nor all high risk patients experience worse outcome. Lots of data have shown that the early treatment response presenting as minimal residual disease (MRD) has an important role in prognostic prediction. In this study, we perform risk stratification based on not only Cytogenetic and Molecular characteristic, but also MRD after three courses of chemo therapy in AML cohort. Patients with MRD positive would be moved to a higher risk class. And then the risk-stratified therapy should be considered according to the new risk stratification.

This diagnostic test is aimed to compare the Karyotyping, CMA and NIPT for prenatal diagnosing chromosomal anomalies. Pregnant women who needed prenatal genetic diagnosis meted the study criterion; fetal amniotic fluid was regular examined by Karyotyping and CMA, and maternal peripheral blood was collected for NIPT detecting. And the CMA result as a golden standard, the main outcome is compared the diagnostic efficacy of NIPT for diagnosing chromosomal anomalies.

Chromosomal instability (CIN) refers to ongoing chromosome segregation errors throughout consecutive cell divisions. CIN is a hallmark of human cancer, and it is associated with poor prognosis, metastasis, and therapeutic resistance. Analyzing CIN of the DNA extracted from urothelial cells in urine samples seems a promising method for diagnosing, monitoring, and predicting the prognosis of bladder cancer patients. CIN can be assessed using experimental techniques such as bulk DNA sequencing, fluorescence in situ hybridization (FISH), or conventional karyotyping. However, these techniques are either time-consuming or non-specific. We here intend to study whether a new method named Ultrasensitive Chromosomal Aneuploidy Detection (UCAD), which is based on low-coverage whole-genome sequencing, can be used to analyze CIN thus help diagnosing and treating bladder cancer patients.

The overall significance of this study is to develop a laboratory developed test (LDT) to use a new marker in the maternal blood to better identify pregnancies that have a child with a chromosome abnormality such as Down syndrome (trisomy 21), Edward's syndrome (trisomy 18), Patau syndrome (trisomy 13), Klinefelter syndrome, (47, XXY), and other chromosome abnormalities. Accomplishing that task would reduce the need for invasive amniocentesis and CVS procedures.

Recent years, women with infertility have become more and more and thus assisted reproductive technology has been applied in a broad range. And the quantities of twin pregnancies are larger and larger. However, complicated twin pregnancy subsequently increased including selective intrauterine growth restriction (sIUGR), twin growth discordance, twin transfusion syndrome (TTTS) and intrauterine fetal death (IUFD). The occurrence of complicated twin pregnancy has been the leading cause of morbidity and mortality in twin and mother. Meanwhile, twin pregnancy, especially monochorionic type has suffered from higher rate of chromosomal anomalies and structural anomalies. Therefore, it is important that more attention should be paid to the prediction, clinical evaluation and the occurrence of chromosomal anomalies and structural anomalies in complicated twin pregnancy. So far, prenatal ultrasound has been acknowledged as the best method for prenatal diagnosis and evaluation in twin pregnancy. By means of the application of prenatal ultrasound, the detection of fetal chromosome, and secondary correlation analysis, the investigators try to build prenatal ultrasound monitoring system of twin pregnancy and provide evidences for the choice of intervention and delivery time, in order to decrease the morbidity and mortality of twin and improve perinatal short and long outcomes. The goals of this study are as below: (1) primary goal: the prediction of complicated twin pregnancy by using prenatal ultrasound; (2) primary goal: the clinical evaluation of perinatal outcomes in twin pregnancy by using prenatal ultrasound; (3) secondary goal: the analysis of the correlation between prenatal ultrasound and fetal anomalies.

Optimise genetic screening of human embryos using higher resolution techniques

OBJECTIVES: I. Determine the pattern of immunologic reconstitution in patients with T-cell compromise due to DiGeorge syndrome or velocardiofacial syndrome. II. Determine any correlation between immunologic function in these patients and chromosome 22 deletion breakpoints. III. Determine presence of sustained immunologic compromise in older patients.